Knowledge base for genomic medicine in Japanese
肺動脈性肺高血圧症
循環器・内分泌疾患
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TypeNameGene SymbolClinical SignificanceChromosomeStartStopReference AlleleAlternate AlleleReview StatusOther IDs
(GRCh37)
single nucleotide variantNM_001127217.2(SMAD9):c.880C>T (p.Arg294Ter)SMAD9Pathogenic133743979737439797GAcriteria provided, single submitterOMIM Allelic Variant:603295.0003
indelNM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)CAV1Pathogenic7116199205116199206TTAcriteria provided, single submitter-
single nucleotide variantNM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln)ACVRL1Pathogenic125231000352310003GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0001,UniProtKB (protein):P37023#VAR_006213
single nucleotide variantNM_000020.2(ACVRL1):c.150G>T (p.Trp50Cys)ACVRL1Pathogenic125230697152306971GTcriteria provided, single submitterOMIM Allelic Variant:601284.0004,UniProtKB (protein):P37023#VAR_006204
single nucleotide variantNM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp)ACVRL1Pathogenic125230989152309891CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0007,UniProtKB (protein):P37023#VAR_006211
deletionNM_000020.2(ACVRL1):c.760_762del (p.Asp254del)ACVRL1Pathogenic125230835552308357CACGCcriteria provided, single submitterOMIM Allelic Variant:601284.0008
single nucleotide variantNM_000020.2(ACVRL1):c.1231C>T (p.Arg411Trp)ACVRL1Pathogenic125231000252310002CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0009,UniProtKB (protein):P37023#VAR_026809
single nucleotide variantNM_001077401.2(ACVRL1):c.1450C>T (p.Arg484Trp)ACVRL1Pathogenic125231461552314615CTcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0010,UniProtKB (protein):P37023#VAR_026815
single nucleotide variantNM_000020.2(ACVRL1):c.632G>A (p.Gly211Asp)ACVRL1Pathogenic125230822952308229GAcriteria provided, single submitterOMIM Allelic Variant:601284.0011,UniProtKB (protein):P37023#VAR_026788
single nucleotide variantNM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)ACVRL1Pathogenic125230926752309267GAcriteria provided, multiple submitters, no conflictsOMIM Allelic Variant:601284.0012,UniProtKB (protein):P37023#VAR_026798